Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16129186G>T , CM000663.2:g.16129186G>T | GRCh38 |
| NC_000001.10:g.16455681G>T , CM000663.1:g.16455681G>T | GRCh37 |
| NC_000001.9:g.16328268G>T | NCBI36 |
| NG_021396.1:g.31902C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004431.5:c.2825+248C>A MANE Select | NP_004422.2:n.2825+248C>A |
| ENST00000358432.8:c.2825+248C>A MANE Select | ENSP00000351209.5:n.2825+248C>A |
| NM_001329090.1:c.2663+248C>A | NP_001316019.1:n.2663+248C>A |
| NM_001329090.2:c.2663+248C>A | NP_001316019.1:n.2663+248C>A |
| NM_004431.3:c.2825+248C>A | NP_004422.2:n.2825+248C>A |
| NM_004431.4:c.2825+248C>A | NP_004422.2:n.2825+248C>A |
| ENST00000358432.7:c.2825+248C>A | ENSP00000351209.5:n.2825+248C>A |